MCID: SLL003
MIFTS: 46

Salla Disease malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Salla Disease

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Aliases & Descriptions for Salla Disease:

Name: Salla Disease 49 11 45 22 51 24 67
Sd 45 67
Sialic Acid Storage Disease, Finnish Type 65
Free Sialic Acid Storage Disease 65
 
Sialuria, Finnish Type 45
Finnish Type Sialuria 67
Sialuria 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
salla disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy


External Ids:

OMIM49 604369
Orphanet51 309334
ICD10 via Orphanet28 E77.8
MedGen34 C1096903

Summaries for Salla Disease

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NIH Rare Diseases:45 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards based summary: Salla Disease, also known as sd, is related to sialuria and hepatitis, and has symptoms including autosomal recessive inheritance, exotropia and nystagmus. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5), and among its related pathways are Synthesis of substrates in N-glycan biosythesis and Tuberculosis. Affiliated tissues include brain and testes, and related mouse phenotype mortality/aging.

OMIM:49 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile... (604369) more...

UniProtKB/Swiss-Prot:67 Salla disease: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.

Wikipedia:68 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Related Diseases for Salla Disease

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Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 296)
idRelated DiseaseScoreTop Affiliating Genes
1sialuria30.1GNE, SLC17A5
2hepatitis29.3LAMP1, SLC17A5
3free sialic acid storage disorders10.6
4intermediate severe salla disease10.5
5retinitis10.4
6shwachman-diamond syndrome10.4
7hemoglobin sd10.4
8ocular hypertension10.2
9diabetic macular edema10.2
10cork-handlers' disease10.2
11gallbladder cancer10.2
12myopia10.2
13nutritional deficiency disease10.2
14retinal disease10.2
15sialidosis, type i10.1
16sialic acid storage disorder, infantile10.1
17lysosomal storage disease10.1
18pulmonary emphysema10.1
19cystinosis10.1
20encephalopathy10.1
21greenberg skeletal dysplasia10.1
22obesity10.1
23pulmonary disease, chronic obstructive10.1
24retinitis pigmentosa10.1
25spiradenoma10.1
26autonomic nervous system disease10.1
27eye disease10.1
28glucose metabolism disease10.1
29obstructive lung disease10.1
30respiratory system disease10.1
31viral infectious disease10.1
32macular degeneration, age-related, 210.0
33macular degeneration, age-related, 110.0
34asthma10.0
35macular degeneration, age-related, 1210.0
36aplastic anemia10.0
37trichohepatoenteric syndrome 110.0
38asthma 210.0
39microcephaly 1, primary, autosomal recessive10.0
40macrocephaly/autism syndrome10.0
41asthma 110.0
42coronary heart disease 410.0
43desbuquois dysplasia 110.0
44microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.0
45retinoschisis10.0
46pigment dispersion syndrome10.0
47arthritis10.0
48joint disorders10.0
49keratoconus10.0
50osteoarthritis10.0

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Symptoms for Salla Disease

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Symptoms by clinical synopsis from OMIM:

604369

Clinical features from OMIM:

604369

HPO human phenotypes related to Salla Disease:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 exotropia HP:0000577
3 nystagmus HP:0000639
4 delayed speech and language development HP:0000750
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 ataxia HP:0001251
8 muscular hypotonia HP:0001252
9 spasticity HP:0001257
10 dysarthria HP:0001260
11 global developmental delay HP:0001263
12 growth delay HP:0001510
13 vacuolated lymphocytes HP:0001922
14 abnormality of metabolism/homeostasis HP:0001939
15 athetosis HP:0002305
16 inability to walk HP:0002540
17 thickened calvaria HP:0002684

Drugs & Therapeutics for Salla Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

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Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease22 24 SLC17A5

Anatomical Context for Salla Disease

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MalaCards organs/tissues related to Salla Disease:

33
Brain, Testes

Animal Models for Salla Disease or affiliated genes

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MGI Mouse Phenotypes related to Salla Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0GNE, LAMP1, LAMP2, SLC17A5

Publications for Salla Disease

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Articles related to Salla Disease:

(show all 47)
idTitleAuthorsYear
1
A 13-year follow-up of Finnish patients with Salla disease. (26171070)
2015
2
The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. (24993898)
2014
3
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. (23227378)
2012
4
Salla disease in Turkish children: severe and conventional type. (20196397)
2009
5
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. (16158439)
2005
6
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. (16170568)
2005
7
Novel form of intermediate salla disease: clinical and neuroimaging features. (16417876)
2005
8
Salla disease and ISSD--what does the future hold? (15171996)
2004
9
Neurocognitive profiles in Salla disease. (15581157)
2004
10
Cerebellar white matter involvement in Salla disease. (15179531)
2004
11
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. (15635485)
2004
12
A case of Salla disease with involvement of the cerebellar white matter. (12592494)
2003
13
Two cases of Salla disease in Danish children. (14696864)
2003
14
Free sialic acid storage (Salla) disease in Sweden. (12578289)
2002
15
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. (11992753)
2002
16
Multiple neuroendocrine disorder in Salla disease. (11669356)
2001
17
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. (10891913)
2000
18
Brain involvement in Salla disease. (10219409)
1999
19
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. (10331697)
1999
20
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). (9935050)
1999
21
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. (9343943)
1997
22
Salla disease--rare or underdiagnosed? (9112963)
1997
23
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. (8825046)
1996
24
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (7573051)
1995
25
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. (7557994)
1995
26
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. (7885532)
1994
27
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. (1505579)
1992
28
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. (1733832)
1992
29
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. (1959930)
1991
30
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. (2381164)
1990
31
Neuropathology of Salla disease. (3287834)
1988
32
Pulmonary emphysema in a nonsmoking patient with Salla disease. (3565947)
1987
33
Disorders of lysosomal membrane transport--cystinosis and Salla disease. (3326729)
1987
34
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. (3425617)
1987
35
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. (3944269)
1986
36
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. (3718508)
1986
37
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. (3961501)
1986
38
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. (3960283)
1986
39
Salla disease in one non-Finnish patient. (3770005)
1986
40
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
41
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. (4032465)
1985
42
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. (4012278)
1985
43
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. (6694015)
1984
44
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
1983
45
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. (6297896)
1983
46
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. (510308)
1979
47
Four patients with a new lysosomal storage disorder (Salla disease). (723890)
1978

Variations for Salla Disease

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UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

67
id Symbol AA change Variation ID SNP ID
1SLC17A5p.Arg39CysVAR_018684
2SLC17A5p.Lys136GluVAR_018685

Clinvar genetic disease variations for Salla Disease:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC17A5NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs)deletionLikely pathogenicrs794729653GRCh37Chr 6, 74351530: 74351530
2SLC17A5NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu)single nucleotide variantLikely pathogenic, Pathogenicrs80338795GRCh37Chr 6, 74351533: 74351533
3SLC17A5NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs80338794GRCh37Chr 6, 74354306: 74354306
4SLC17A5SLC17A5, 15-BP DEL, NT802deletionPathogenic
5SLC17A5NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs)deletionLikely pathogenicrs386833987GRCh37Chr 6, 74325141: 74325142
6SLC17A5NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs)deletionLikely pathogenicrs386833988GRCh37Chr 6, 74320243: 74320244
7SLC17A5NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu)single nucleotide variantLikely pathogenicrs386833989GRCh37Chr 6, 74320156: 74320156
8SLC17A5NM_012434.4(SLC17A5): c.291G> A (p.Thr97=)single nucleotide variantLikely pathogenicrs386833990GRCh37Chr 6, 74354130: 74354130
9SLC17A5NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter)single nucleotide variantLikely pathogenicrs386833991GRCh37Chr 6, 74351630: 74351630
10SLC17A5NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs)deletionLikely pathogenicrs386833992GRCh37Chr 6, 74351432: 74351432
11SLC17A5NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter)single nucleotide variantLikely pathogenicrs386833993GRCh37Chr 6, 74345205: 74345205
12SLC17A5NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del)deletionLikely pathogenicrs386833994GRCh37Chr 6, 74345108: 74345122
13SLC17A5NM_012434.4(SLC17A5): c.95-1G> Csingle nucleotide variantLikely pathogenicrs386833995GRCh37Chr 6, 74354327: 74354327
14SLC17A5NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu)single nucleotide variantLikely pathogenicrs386833996GRCh37Chr 6, 74325166: 74325166
15GNENM_005476.5(GNE): c.796C> T (p.Arg266Trp)single nucleotide variantPathogenicrs121908621GRCh37Chr 9, 36234103: 36234103
16GNENM_005476.5(GNE): c.797G> A (p.Arg266Gln)single nucleotide variantPathogenicrs121908622GRCh37Chr 9, 36234102: 36234102
17GNENM_005476.5(GNE): c.788G> T (p.Arg263Leu)single nucleotide variantPathogenicrs121908623GRCh37Chr 9, 36234111: 36234111

Expression for genes affiliated with Salla Disease

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Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

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GO Terms for genes affiliated with Salla Disease

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Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00057709.1LAMP1, LAMP2
2lysosomal membraneGO:00057658.8LAMP2, SLC17A5
3lysosomeGO:00057648.6LAMP1, LAMP2, SLC17A5

Biological processes related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein N-linked glycosylation via asparagineGO:00182799.3GNE, SLC17A5
2protein stabilizationGO:00508219.3LAMP1, LAMP2
3dolichol-linked oligosaccharide biosynthetic processGO:00064889.0GNE, SLC17A5

Sources for Salla Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet